nsv5612596
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Ebert et al. 2021
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 434 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 434 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5612596 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 47,089,400 | 47,089,400 | ||
| nsv5612596 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 46,948,799 | 46,948,799 |
| nsv5612596 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 338,961 | 338,961 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv17167593 | insertion | SAMN00006579 | Sequencing | Sequence alignment | 23,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17167593 | Submitted genomic | NC_000023.11:g.470 89400_47089401ins1 206 | GRCh38 (hg38) | NC_000023.11 | ChrX | 47,089,400 | 47,089,400 | ||
| nssv17167593 | Remapped | Perfect | NW_004166866.1:g.3 38961_338962ins120 6 | GRCh37.p13 | First Pass | NW_004166866.1 | ChrX|NW_00 4166866.1 | 338,961 | 338,961 |
| nssv17167593 | Remapped | Perfect | NC_000023.10:g.469 48799_46948800ins1 206 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 46,948,799 | 46,948,799 |